Bye A M, Kan A E
Department of Neurology, Children's Hospital, Camperdown, New South Wales, Australia.
Aust Paediatr J. 1988 Aug;24(4):258-9. doi: 10.1111/j.1440-1754.1988.tb01353.x.
A 13-year old boy presented with a 10-year history of severe muscle cramps experienced an hour after prolonged exercise. There was no history of exercise intolerance or myoglobinuria. A muscle biopsy showed a lipid myopathy and a deficiency of muscle carnitine palmityl transferase. He has responded to a high carbohydrate, low fat diet with added carbohydrate intake preceding extensive exercise. Diagnosis of this entity before an episode of rhabdomyolysis is unusual.
一名13岁男孩有长达10年的严重肌肉痉挛病史，常在长时间运动1小时后发作。他没有运动不耐受或肌红蛋白尿的病史。肌肉活检显示为脂质肌病以及肌肉肉碱棕榈酰转移酶缺乏。他通过高碳水化合物、低脂肪饮食，并在剧烈运动前增加碳水化合物摄入量后病情有所改善。在横纹肌溶解发作之前诊断出这种疾病并不常见。
